Variant report

Variant	nsv585743
Chromosome Location	chr20:24412628-24422682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr20:24415845-24416289	GM12878	blood:	n/a	n/a
2	BCL3	chr20:24415916-24416156	GM12878	blood:	n/a	n/a
3	CEBPB	chr20:24413312-24413524	A549	lung:	n/a	n/a
4	CEBPB	chr20:24413325-24413519	HepG2	liver:	n/a	n/a
5	CTCF	chr20:24412640-24412790	GM06990	blood:	n/a	n/a
6	CTCF	chr20:24412671-24412928	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr20:24412700-24412850	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr20:24412680-24412830	HepG2	liver:	n/a	n/a
9	CTCF	chr20:24412680-24412830	BE2_C	brain:	n/a	n/a
10	CTCF	chr20:24412752-24412763	MCF-7	breast:	n/a	n/a
11	CTCF	chr20:24412720-24412870	HEK293	kidney:	n/a	n/a
12	CTCF	chr20:24414463-24414478	GM10248	blood:	n/a	n/a
13	CTCF	chr20:24412630-24412963	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr20:24412700-24412850	HepG2	liver:	n/a	n/a
15	CTCF	chr20:24412840-24412990	Caco-2	colon:	n/a	n/a
16	CTCF	chr20:24412800-24412950	GM12869	blood:	n/a	n/a
17	CTCF	chr20:24414494-24414507	GM10248	blood:	n/a	n/a
18	CTCF	chr20:24412660-24412810	GM12869	blood:	n/a	n/a
19	CTCF	chr20:24412700-24412850	A549	lung:	n/a	n/a
20	CTCF	chr20:24414479-24414482	GM10248	blood:	n/a	n/a
21	CTCF	chr20:24412640-24412790	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr20:24412620-24412770	SAEC	small airway:	n/a	n/a
23	CTCF	chr20:24412700-24412850	HAc	cerebellar:	n/a	n/a
24	CTCF	chr20:24412720-24412870	GM12873	blood:	n/a	n/a
25	CTCF	chr20:24412700-24412850	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr20:24412580-24412730	RPTEC	kidney:	n/a	n/a
27	CTCF	chr20:24412603-24412891	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr20:24412660-24412810	GM12871	blood:	n/a	n/a
29	CTCF	chr20:24412760-24412910	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr20:24412740-24412890	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr20:24412520-24412670	A549	lung:	n/a	n/a
32	CTCF	chr20:24412820-24412970	GM12871	blood:	n/a	n/a
33	GATA2	chr20:24422310-24422574	SH-SY5Y	brain:	n/a	chr20:24422326-24422333
34	HNF4A	chr20:24412698-24412988	HepG2	liver:	n/a	chr20:24412949-24412964 chr20:24412949-24412964 chr20:24412950-24412962 chr20:24412950-24412962 chr20:24412950-24412958
35	HNF4A	chr20:24412785-24413037	HepG2	liver:	n/a	chr20:24412949-24412964 chr20:24412949-24412964 chr20:24412950-24412962 chr20:24412950-24412962 chr20:24412950-24412958
36	JUN	chr20:24412851-24413007	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFF	chr20:24420006-24420126	HepG2	liver:	n/a	chr20:24420046-24420064
38	MAFK	chr20:24419985-24420198	HepG2	liver:	n/a	chr20:24420050-24420064
39	MAFK	chr20:24419921-24420206	HepG2	liver:	n/a	chr20:24420050-24420064
40	MAX	chr20:24416194-24416377	NB4	blood:	n/a	n/a
41	MYC	chr20:24416249-24416269	MCF-7	breast:	n/a	n/a
42	MYC	chr20:24416385-24416391	MCF-7	breast:	n/a	n/a
43	MYC	chr20:24416103-24416108	MCF-7	breast:	n/a	n/a
44	MYC	chr20:24416116-24416333	MCF-7	breast:	n/a	n/a
45	PBX3	chr20:24415946-24416255	GM12878	blood:	n/a	n/a
46	POLR2A	chr20:24416322-24416323	A549	lung:	n/a	n/a
47	POLR2A	chr20:24422086-24422369	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr20:24418039-24418110	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr20:24416237-24416320	A549	lung:	n/a	n/a
50	RAD21	chr20:24412509-24413013	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24420874..24424389-chr20:24442088..24445319,3	MCF-7	breast:

Variant related genes	Relation type
GAPDHP53	TF binding region

Extended variants
information (count: 486 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9753650	chr20:24412628-24412629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77772048	chr20:24412631-24412632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376419481	chr20:24412643-24412644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115699093	chr20:24412644-24412645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113896871	chr20:24412684-24412685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199852459	chr20:24412698-24412699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191689205	chr20:24412702-24412703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556555223	chr20:24412713-24412714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148355667	chr20:24412716-24412717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183863455	chr20:24412735-24412736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74219365	chr20:24412756-24412757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527918106	chr20:24412790-24412791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147082792	chr20:24412795-24412796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569813649	chr20:24412799-24412800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138581614	chr20:24412815-24412816	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533408586	chr20:24412823-24412824	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs368407886	chr20:24412830-24412831	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs372602169	chr20:24412835-24412836	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs549383286	chr20:24412858-24412859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs116190300	chr20:24412886-24412887	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs201664401	chr20:24412890-24412891	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs6138296	chr20:24412891-24412892	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376037425	chr20:24412916-24412917	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs202131269	chr20:24412919-24412920	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs72623580	chr20:24412947-24412948	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs6049678	chr20:24412972-24412973	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs534865477	chr20:24412978-24412979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs113326630	chr20:24412987-24412988	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs74173646	chr20:24412988-24412989	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187967658	chr20:24413026-24413027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6036781	chr20:24413044-24413045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375118563	chr20:24413073-24413074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556616696	chr20:24413076-24413077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73904213	chr20:24413085-24413086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375865370	chr20:24413093-24413094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192294303	chr20:24413113-24413114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6036783	chr20:24413135-24413136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535463274	chr20:24413247-24413248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575009976	chr20:24413273-24413274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555878580	chr20:24413287-24413288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572405069	chr20:24413362-24413363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138987355	chr20:24413374-24413375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6036784	chr20:24413381-24413382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564309318	chr20:24413392-24413393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6049679	chr20:24413487-24413488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185840278	chr20:24413507-24413508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190217790	chr20:24413525-24413526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181559159	chr20:24413589-24413590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548698727	chr20:24413602-24413603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149486314	chr20:24413626-24413627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24407600-24413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr20:24410800-24413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:24411600-24412800	Enhancers	Gastric	stomach
4	chr20:24411600-24412800	Enhancers	Lung	lung
5	chr20:24411800-24412800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:24411800-24413600	Enhancers	Stomach Mucosa	stomach
7	chr20:24412200-24413600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:24412400-24412800	Enhancers	Duodenum Mucosa	Duodenum
9	chr20:24412400-24413000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:24412400-24413400	Enhancers	Fetal Intestine Small	intestine
11	chr20:24412400-24413400	Enhancers	Fetal Lung	lung
12	chr20:24412400-24413400	Enhancers	HepG2	liver
13	chr20:24412400-24413600	Enhancers	Fetal Intestine Large	intestine
14	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:24412600-24412800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr20:24412600-24413000	Enhancers	Fetal Stomach	stomach
17	chr20:24412600-24413200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:24412800-24413000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr20:24412800-24413000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr20:24412800-24413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:24412800-24417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr20:24413000-24413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr20:24413000-24413800	Enhancers	Fetal Kidney	kidney
25	chr20:24413000-24414200	Enhancers	Duodenum Mucosa	Duodenum
26	chr20:24413000-24416600	Weak transcription	Fetal Stomach	stomach
27	chr20:24413400-24416800	Weak transcription	Fetal Intestine Small	intestine
28	chr20:24413600-24414000	Weak transcription	Fetal Intestine Large	intestine
29	chr20:24413600-24417400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr20:24413800-24417000	Weak transcription	Fetal Kidney	kidney
31	chr20:24414000-24414200	Enhancers	Fetal Intestine Large	intestine
32	chr20:24414200-24416400	Weak transcription	Fetal Intestine Large	intestine
33	chr20:24415800-24418600	Enhancers	Fetal Muscle Leg	muscle
34	chr20:24416000-24419200	Enhancers	Fetal Brain Male	brain
35	chr20:24416200-24416400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr20:24416400-24416800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr20:24416400-24417200	Enhancers	Brain Cingulate Gyrus	brain
38	chr20:24416400-24417400	Enhancers	Brain Substantia Nigra	brain
39	chr20:24416400-24419200	Enhancers	Fetal Intestine Large	intestine
40	chr20:24416400-24421600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr20:24416600-24416800	Enhancers	Colonic Mucosa	Colon
42	chr20:24416600-24416800	Enhancers	Fetal Stomach	stomach
43	chr20:24416600-24417800	Enhancers	Brain Germinal Matrix	brain
44	chr20:24416600-24419000	Enhancers	Fetal Brain Female	brain
45	chr20:24416800-24417200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:24416800-24417200	Weak transcription	Fetal Stomach	stomach
47	chr20:24416800-24417400	Enhancers	Brain Hippocampus Middle	brain
48	chr20:24416800-24419200	Enhancers	Fetal Intestine Small	intestine
49	chr20:24417000-24417600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr20:24417000-24418000	Weak transcription	Colonic Mucosa	Colon

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